Sugi Variant

Sugi Variant/CDAN1

CDAN1 — 911 ClinVar variants

All ClinVar germline CDAN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 383 flagged for review →

30 Pathogenic · 7 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 52 Conflicting · 40 Benign · 31 Benign/Likely benign · 292 Likely benign · 428 Uncertain significance

Full CDAN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 383

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 17

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 282

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 282

Predictors split 80

The independent predictors disagree with each other — read with care.

All CDAN1 variants

Pathogenic 30

Pathogenic/Likely pathogenic 7

Likely pathogenic 31

  • p.Asn599Ser Multiple submitters anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Pro51Leu Multiple submitters anemia, congenital dyserythropoietic, type 1a ⚠
  • c.1458-1G>A Single submitter CDAN1-related disorder
  • c.1534-1G>C Single submitter
  • c.1739+1G>A Single submitter
  • c.2645+2T>C Single submitter
  • c.2867_2868+1dup Single submitter
  • c.3204+1G>A Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.3554_3558+2del Single submitter
  • c.774-1G>T Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Ala689Glu Single submitter congenital dyserythropoietic anemia type 1
  • p.Arg295fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Gln263fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Gln67Ter Single submitter CDAN1-related disorder
  • p.Gln847Ter Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Gln928fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Glu11Ter Single submitter CDAN1-related disorder
  • p.Glu59Ter Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Gly1098fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Gly77fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Ile802fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Leu1113Pro Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Leu481fs Single submitter
  • p.Phe369del Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Pro51fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Thr563fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Thr757fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Trp1184Ter Single submitter CDAN1-related disorder
  • p.Val878fs Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Val886fs Single submitter
  • p.Gln1062fs No assertion criteria CDAN1-related disorder

Conflicting classifications of pathogenicity 52

  • c.1058-11T>G Single submitter congenital dyserythropoietic anemia type 1
  • c.1368-6C>T Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.1860+4C>T Single submitter
  • c.2007+10C>T Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.2007+11G>A Single submitter congenital dyserythropoietic anemia type 1
  • c.2008-15C>T Single submitter congenital dyserythropoietic anemia type 1
  • c.2008-8C>T Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.2174+11C>T Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.2175-12T>C Single submitter
  • c.2263-8C>T Single submitter congenital dyserythropoietic anemia type 1
  • c.2541+14G>A Single submitter congenital dyserythropoietic anemia type 1
  • c.2542-4C>G Single submitter congenital dyserythropoietic anemia type 1
  • c.2805-11T>A Single submitter congenital dyserythropoietic anemia type 1
  • c.2947+9C>A Single submitter congenital dyserythropoietic anemia type 1
  • c.3204+5G>A Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.3450+17A>G Single submitter anemia, congenital dyserythropoietic, type 1a
  • c.3559-11A>G Single submitter congenital dyserythropoietic anemia type 1
  • c.-14G>A Single submitter congenital dyserythropoietic anemia type 1
  • p.Ala787Val Single submitter congenital dyserythropoietic anemia type 1 ⚠
  • p.Ala912Val Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Ala956= Single submitter congenital dyserythropoietic anemia type 1
  • p.Arg1067His Single submitter congenital dyserythropoietic anemia type 1 ⚠
  • p.Arg63His Single submitter congenital dyserythropoietic anemia type 1 ⚠
  • p.Arg677Trp Single submitter CDAN1-related disorder ⚠
  • p.Arg682Gln Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Arg688Trp Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Arg722Cys Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Arg725Trp Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Asn609Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp1045= Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Asp1045Glu Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Asp888His Single submitter congenital dyserythropoietic anemia type 1 ⚠
  • p.Cys1175Tyr Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Cys1213= Single submitter
  • p.Gly613= Single submitter congenital dyserythropoietic anemia type 1
  • p.Gly926Arg Single submitter congenital dyserythropoietic anemia type 1 ⚠
  • p.Ile802= Single submitter congenital dyserythropoietic anemia type 1
  • p.Leu1057= Single submitter congenital dyserythropoietic anemia type 1
  • p.Leu1195Pro Single submitter ⚠
  • p.Leu696= Single submitter anemia, congenital dyserythropoietic, type 1a
  • p.Leu915= Single submitter congenital dyserythropoietic anemia type 1
  • p.Leu958= Single submitter congenital dyserythropoietic anemia type 1
  • p.Met550Thr Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Pro1128= Single submitter congenital dyserythropoietic anemia type 1
  • p.Pro672= Single submitter congenital dyserythropoietic anemia type 1
  • p.Pro780Ser Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Pro86Ser Single submitter congenital dyserythropoietic anemia type 1 ⚠
  • p.Ser108= Single submitter congenital dyserythropoietic anemia type 1
  • p.Ser183Leu Single submitter anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Ser811Leu Single submitter Inborn genetic diseases ⚠
  • p.Val19= Single submitter congenital dyserythropoietic anemia type 1
  • p.Val869Met Single submitter CDAN1-related disorder ⚠

Benign 40

Benign/Likely benign 31

  • c.1368-15G>A Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • c.2174+20G>A Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • c.2263-5G>A Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • c.2408-3C>T Multiple submitters congenital dyserythropoietic anemia type 1
  • c.2869-5C>T Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • c.3450+11C>T Multiple submitters congenital dyserythropoietic anemia type 1
  • c.570-18T>C Multiple submitters
  • c.773+14G>A Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Ala1016Thr Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Ala148Val Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Ala689= Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Arg1065Gln Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Arg129His Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Arg687Cys Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Arg891Cys Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Arg946Trp Multiple submitters anemia, congenital dyserythropoietic, type 1a ⚠
  • p.Gln508= Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Gln596Arg Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Gln913Leu Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Glu1051= Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Gly821= Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Ile917Ser Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Leu1158= Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Leu302= Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Pro103= Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Pro159= Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Pro186= Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Pro268= Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Ser79= Multiple submitters congenital dyserythropoietic anemia type 1
  • p.Thr1222= Multiple submitters anemia, congenital dyserythropoietic, type 1a
  • p.Thr213= Multiple submitters anemia, congenital dyserythropoietic, type 1a

Likely benign 292

Uncertain significance 428

Showing the top 300 by review status; the full set is in the sitemap.